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NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 19, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002360772.2

Allele description [Variation Report for NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)]

NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)

Gene:
VRK1:VRK serine/threonine kinase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
HGVS:
  • NC_000014.9:g.96833478_96833479delinsTT
  • NG_016293.1:g.41132_41133delinsTT
  • NM_003384.3:c.7_8delinsTTMANE SELECT
  • NP_003375.1:p.Arg3Phe
  • NC_000014.8:g.97299815_97299816delinsTT
  • NM_003384.2:c.7_8delCGinsTT
Protein change:
R3F
Links:
dbSNP: rs1566696565
NCBI 1000 Genomes Browser:
rs1566696565
Molecular consequence:
  • NM_003384.3:c.7_8delinsTT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002666625Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 19, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV002666625.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.7_8delCGinsTT variant (also known as p.R3F), located in coding exon 1 of the VRK1 gene, results from an in-frame deletion of CG and insertion of TT at nucleotide positions 7 to 8. This results in the substitution of the arginine residue for a phenylalanine residue at codon 3, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024